Schizencephaly

Schizencephaly is an extremely rare developmental birth defect characterized by abnormal slits, or clefts, in the cerebral hemispheres of the brain. Babies with clefts in both hemispheres (bilateral clefts) commonly have:

• Developmental delays
• Delays in speech and language skills
• Problems with brain-spinal cord communication

Individuals with clefts in only one hemisphere (unilateral clefts) are often paralyzed on one side of the body but may have average to near-average intelligence. Individuals with schizencephaly also may have:

• An abnormally small head
• Cognitive delay and impairment
• Partial or complete paralysis
• Poor muscle tone

Most will experience seizures. Some individuals may have an excessive accumulation of fluid in the brain called hydrocephalus.

How can I or my loved one help improve care for people with schizencephaly?

Schizencephaly is considered a rare disease, which often means there is not much information known about it. This is usually the case because doctors and researchers do not see many people with schizencephaly, which makes it hard to learn from them through observations or large studies.

Consider participating in a clinical trial so clinicians and scientists can learn more about schizencephaly and related disorders. Clinical research uses human volunteers to help researchers learn more about a disorder and perhaps find better ways to safely detect, treat, or prevent disease.

All types of volunteers are needed—those who are healthy or may have an illness or disease—of all different ages, sexes, races, and ethnicities to ensure that study results apply to as many people as possible, and that treatments will be safe and effective for everyone who will use them.

For information about participating in clinical research visit NIH Clinical Research Trials and You. Learn about clinical trials currently looking for people with schizencephaly at Clinicaltrials.gov.

Where can I find more information about schizencephaly?

Information may be available from the following resources:

Genetic and Rare Diseases (GARD) Information Center

March of Dimes
Phone: 888-663-4637

PubMed

The Arc of the United States
Phone: 202-534-3700 or 800-433-5255

Content source: https://www.ninds.nih.gov/health-information/disorders/schizencephaly Accessed June 29, 2023.

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